Identification of the first patient with a confirmed mutation of the JAK-STAT system.

Ron G Rosenfeld, Eric Kofoed, Caroline Buckway, Brian Little, Katie A Woods, Junko Tsubaki, Katherine A Pratt, Liliana Bezrodnik, Hector Jasper, Alejandro Tepper, Juan J Heinrich, Vivian Hwa

Journal: Pediatric nephrology (Berlin, Germany) 2005;20(3):303-5

PMID: 15688233

Full Text on Ovid Technologies, Inc. View on PubMed

Abstract

Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We describe the first patient reported with a mutation in the gene for STAT5b, a protein critical for the transcriptional regulation of insulin-like growth factor-I.

Address: Lucile Packard Foundation for Children's Health, 770 Welch Road, Suite 350, Palo Alto, CA 94304, USA. [email protected]

DOI: 10.1007/s00467-004-1678-7

Link outs

Free resources

Miscellaneous:

https://assays.cancer.gov/CPTAC-1638

Subscription / membership required

Full Text Sources:

MeSH Terms: Adolescent, DNA-Binding Proteins, Female, Humans, Janus Kinase 2, Milk Proteins, Mutation, Protein-Tyrosine Kinases, Proto-Oncogene Proteins, STAT5 Transcription Factor, Trans-Activators